Varaico: Literature-Extracted Genetic Variants

EPHA6

3q11.2 (UCSC)OMIM GTEx

185 papers

Pfam Domains

Ephrin_lbdaa 35–207UCSCEphrin receptor ligand binding domain

Ephrin_lbdaa 129–301UCSCEphrin receptor ligand binding domain

Ephrin_CRDaa 208–265UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 267–312UCSCTyrosine-protein kinase ephrin type A/B receptor-like

Ephrin_CRDaa 302–359UCSCEphrin cysteine rich domain

Ephrin_rec_likeaa 361–406UCSCTyrosine-protein kinase ephrin type A/B receptor-like

Gene Aliases

HGNC Name

EPH receptor A6

HGNC Alias Symbol

FLJ35246

Papers

RefSeq ID

Protein change

DNA change

Selected Variant

1 paper

NM_001080448.3

p.D338A

c.1013A>C

Surrounding Variants

1 paper

NM_001080448.3

p.R337H

c.1010G>A

1 paper

NM_001080448.3

p.P340R

c.1019C>G

1 paper

NM_001080448.3

p.L342R

c.1025T>G

1 paper

NM_001080448.3

p.C344W

c.1032T>G

1 paper

NM_001080448.3

p.G348G

c.1044A>G

1 paper

NM_001080448.3

p.D349N

c.1045G>A

1 paper

NM_001080448.3

p.R327Q

c.980G>A

1 paper

NM_001080448.3

p.R327W

c.979C>T

1 paper

NM_001080448.3

p.V326insFs

c.977dupT

2 papers

NM_001080448.3

p.P353S

c.1057C>T

1 paper

NM_001080448.3

p.L354F

c.1060C>T

1 paper

NM_001080448.3

p.R356G

c.1066A>G